Results 101 to 110 of about 204,149 (306)

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken   +4 more
wiley   +1 more source

Immunohistochemical and transcriptional expression of Matrix Metalloproteinases in full-term human umbilical cord and Human Umbilical Vein Endothelial Cells [PDF]

open access: yes, 2010
Matrix metalloproteinases (MMPs) are extracellular zinc-dependent endopeptidases involved in the degradation and remodelling of extracellular matrix in physiological and pathological processes.
A Can   +33 more
core   +2 more sources

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen   +5 more
wiley   +1 more source

Classification of stillbirths is an ongoing dilemma [PDF]

open access: yes, 2016
Aim: To compare different classification systems in a cohort of stillbirths undergoing a comprehensive workup; to establish whether a particular classification system is most suitable and useful in determining cause of death, purporting the lowest ...
Bonaccorsi, Gloria   +9 more
core   +1 more source

Research progress in animal models of dry eye disease: Types, mechanisms, and application prospects

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Pivotal multifactorial animal models for translational dry eye disease research. Abstract Dry eye disease (DED) is a prevalent and complex multifactorial ocular surface disorder, leading to significant visual discomfort and diminished quality of life.
Jinshen Liu   +12 more
wiley   +1 more source

Prospective Longitudinal Study of the Pregnancy DNA Methylome: The US Pregnancy, Race, Environment, Genes (PREG) Study [PDF]

open access: yes, 2018
Purpose The goal of the Pregnancy, Race, Environment, Genes study was to understand how social and environmental determinants of health (SEDH), pregnancy-specific environments (PSE) and biological processes influence the timing of birth and account for ...
Amstadter, Ananda B.   +9 more
core   +2 more sources

Small vesicles, big potential: A review of innovative exosome delivery and molecular mechanisms in preclinical myocardial infarction models

open access: yesAnimal Models and Experimental Medicine, EarlyView.
This narrative review discusses animal models of exosome‐based myocardial infarction treatments. Emerging techniques aim to improve exosome stability, targeting, and bioavailability for MI treatment as drug delivery vehicles and regenerative mediators that promote myocardial regeneration. Abstract Exosomes have emerged as promising therapeutic carriers,
Chayanisa Phutiyothin   +2 more
wiley   +1 more source

Humanized immune system animal models and their recent applications

open access: yesAnimal Models and Experimental Medicine, EarlyView.
In this review, we provide an updated and comprehensive overview of the current state of humanized immune system animal model research. We discuss the variety of techniques used to produce humanized mice with their respective strengths and weaknesses, and evaluate the advantages and limitations of these models, including issues with incomplete immune ...
Nicolas Skuli   +6 more
wiley   +1 more source

Comparing placentas from normal and abnormal pregnancies [PDF]

open access: yes, 2010
This report describes work carried out at a Mathematics-in-Medicine Study Group. It is believed that placenta shape villous network characteristics are strongly linked to the placenta’s efficiency, and hence to pregnancy outcome.
Cotter, SL   +12 more
core  

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